Elaine Goh

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour et al. · Genetics in Medicine · 2016 · 96 citations · Full text

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Rare Cause, Genetics, Pathology +4

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 58 citations · Full text

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Chunmei Li, Stacey Vandersluis, Corinne Holubowich et al. · Genetics in Medicine · 2020 · 53 citations

Developmental Anomaly, Unexplained Developmental Disabilities, Multiple Congenital Anomalies +9

The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature

Elaine Goh, Chumei Li, Sheri Horsburgh et al. · American Journal of Medical Genetics Part A · 2010 · 48 citations